Pesquisa sobre: ASPARTYLGLUCOSAMINURIA 
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Descritor Inglês:   Aspartylglucosaminuria 
Descritor Espanhol:   Aspartilglucosaminuria 
Descritor Português:   Aspartilglucosaminúria 
Sinônimos Inglês:   AGA Deficiencies
AGA Deficiency
Aspartylglucosamidase Deficiencies
Aspartylglucosamidase Deficiency
Aspartylglucosaminurias
Aspartylglycosaminuria
Aspartylglycosaminurias
Deficiencies, AGA
Deficiencies, Aspartylglucosamidase
Deficiencies, Glycoasparaginase
Deficiency, AGA
Deficiency, Aspartylglucosamidase
Deficiency, Glycoasparaginase
Glycoasparaginase Deficiencies
Glycoasparaginase Deficiency  
Categoria:   C16.320.565.595.100
C18.452.648.595.100
Definição Inglês:   A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES. 
Nota Histórica Inglês:   2009 
Qualificadores Permitidos Inglês:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Número do Registro:   53102 
Identificador Único:   D054880 

Ocorrência na BVS: 		 

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